G33V (p.Gly33Val) variant of PAH (Phenylalanine-4-hydroxylase)
G33V (p.Gly33Val) in PAH (Phenylalanine-4-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
G33V (p.Gly33Val) variant details
- p.Gly33Val
- rs2499542573
- ClinGen CA386302590
- ClinVar RCV002976127
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Phenylalanine Hydroxylase Deficiency. (PMID 20301677)
- Cited in: Clinical utility gene card for: Phenylketonuria. (PMID 21915151)